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Article

Base editing repairs an SGCA mutation in human primary muscle stem cells.

JCI insight - 24 May 2021

Escobar Helena, Krause Anne, Keiper Sandra, Kieshauer Janine, Müthel Stefanie, de Paredes Manuel García, Metzler Eric, Kühn Ralf, Heyd Florian, Spuler Simone

Abstract excerpt

Skeletal muscle can regenerate from muscle stem cells and their myogenic precursor cell progeny, myoblasts. However, precise gene editing in human muscle stem cells for autologous cell replacement therapies of untreatable genetic muscle diseases has not yet been reported. Loss-of-function mutations in SGCA, encoding α-sarcoglycan, cause limb-girdle muscular dystrophy 2D/R3, an early-onset, severe, and rapidly...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33848270
DOI: 10.1172/jci.insight.145994
PMCID: PMC8262330

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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